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anti-Human PIGT Anticorps:
anti-Mouse (Murine) PIGT Anticorps:
anti-Rat (Rattus) PIGT Anticorps:
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Whole-exome sequencing revealed compound heterozygous mutations (c.250G > T, p.Glu84X and c.1096G > T, p.Gly366Trp) in PIGT (NM_015937.5), which were confirmed using Sanger sequencing. Thus inherited GPI (Montrer GNPDA1 Anticorps) anchor deficiency associated with these PIGT mutations was diagnosed
PIGT-knockout HEK293 cells showed that p.(E237Q) results in a small reduction in the amount of CD59 (Montrer CD59 Anticorps) anchored to the cell membrane.
mutations in PIGT as the cause of a novel autosomal recessive intellectual disability syndrome
Germline mutation and a somatic mutation in PIGT is associated with paroxysmal nocturnal hemoglobinuria.
GPI8 and PIG-T form a functionally important intermolecular disulfide bridge
different regulations of NDAP expression by neurotrophins indicate that the expression of NDAP might be a checkpoint for apoptosis during neuronal development [NDAP]
This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
GPI transamidase component PIG-T
, GPI transamidase subunit
, neurotrophin-regulated neuronal development-associated protein
, phosphatidylinositol-glycan biosynthesis class T protein
, neuronal development-associated protein 7
, phosphatidylinositol glycan, class T